Results 61 to 70 of about 1,915 (178)
Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report
Delhi Journal of OphthalmologyEctrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal +2 more
doaj +1 more source
Indian journal of dermatology, venereology and leprology, 2007 A rare case of ectrodactyly or lobster claw without any other ectodermal involvement is presented. His family history was non-contributory.
G, Kalla, Anush, Garg
openaire +1 more source
Routine 36‐week scan: diagnosis of fetal abnormalities
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki +5 more
wiley +1 more source
Ectrodactilia em cão: relato de caso Ectrodactyly in dog: case report
Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2007 Descreve-se um caso de ectrodactilia em um cão, sem raça definida e dois meses de idade. No exame clínico e radiográfico, foi verificada a separação óssea e de tecidos moles entre o segundo e o terceiro dígitos, estendendo-se proximalmente até a região ...
M.P. Ferreira +5 more
doaj +1 more source
Síndrome ADULT: descrição clínica de cinco membros da mesma família, aspectos histológicos e investigação de mutação genética no p63 [PDF]
, 2012 A ADULT (acro-dermato-ungueal-lacrimal-tooth) é uma síndrome genética humana que se manifesta clinicamente por alterações cutâneas e do desenvolvimento dos apêndices embrionários.
Caspary, Patrícia
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Acta Ophthalmologica, Volume 103, Issue 2, Page e125-e135, March 2025.Abstract Background This study aims to characterize the clinical outcomes after allogeneic simple limbal epithelial transplantation (alloSLET) utilizing tissue from cadaveric donor eyes to address persistent corneal epithelial defects caused by limbal stem cell deficiency.
Jana C. Riedl +6 more
wiley +1 more source
Isolated Cleft Foot: A Case Report and Review of Literature
Indian Journal of Plastic SurgeryCleft foot is a rare congenital anomaly (syndromic/isolated). Although there have been published reports about this anomaly, none has so far described standardized treatment guidelines. In this case report, we describe the details of operative management
Sunil Kumar Rout +3 more
doaj +1 more source
Goltz syndrome: A newborn with ectrodactyly and skin lesions
Indian Journal of Dermatology, 2015 Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus ...
Shatanik Sarkar +3 more
doaj +1 more source
Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia
Clinical Case Reports, 2021 Our findings expand the known clinical features of trisomy 13 by including ectrodactyly as a possible Trisomy 13‐associated limb malformation. We highlight the importance of performing antenatal genetic test to establish more specific treatment plan.
Wafaa N. Al Rawi +6 more
doaj +1 more source
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 [PDF]
, 2018 SHFM3 is a limb malformation characterized by the absence of central digits. It has been shown that this condition is associated with tandem duplications of about 500 kb at 10q24.
Antonarakis, Stylianos +6 more
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